학술논문
'학술논문'
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Academic Journal
Popp, Bernt; Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek‐Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Sorge, Ina; Lemke, Johannes R; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent; Brunet, Theresa
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Academic Journal
Popp, Bernt; Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Sorge, Ina; Lemke, Johannes R.; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent; Brunet, Theresa
Academic Journal
Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Lemke, Johannes; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent; Brunet, Theresa; Popp, Bernt
Periodical
Li, Xia; Poschmann, Sibylle; Chen, Qiuyun; Fazeli, Walid; Oundjian, Nelly; Snoeijen-Schouwenaars, Francesca; Fricke, Oliver; Kamsteeg, Erik-Jan; Willemsen, Marjolein; Wang, Qing Kenneth
European Journal of Human Genetics: EJHG; February 2018, Vol. 26 Issue: 2 p220-229, 10p
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[AR] Poschmann, Sibylle
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